rs1049402

This is a variant in the GARS1 gene that changes a proline to an alanine.

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ClinVar annotation

Benign★★★☆
1 submitter3 publications

Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2D (CMT2D); Distal spinal muscular atrophy; Neuronopathy, distal hereditary motor, type 5A (HMND5); Spinal muscular atrophy, infantile, James type; not specified

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Research that mentions this SNP (1)

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Identification of candidate genes carrying polymorphisms associated with the risk of colorectal cancer by analyzing the colorectal mutome and microRNAome
FunctionalN=23Debora Landi et al.(2012)· Cancer

Bioinformatics analysis of exome sequencing data from 23 colorectal cancer patients treated with Cetuximab to identify candidate genes explaining differential skin rash response. Using a novel Molecular Systems Map approach, the study identified 12 candidate genes (C3, CCNK, CD86, CDH11, COL4A4, GRIP2, NUP210, P3H3, STUB1, TLR5, KISS1, ERMAP) with variants potentially affecting EGFR signaling, immune response, and cell adhesion pathways.

Traits studied:Cetuximab-induced skin rash in colorectal cancer
PubMedDOIMetascience Observatory

About GARS1

This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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